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Known Diseases associated with this Protein: | PULMONARY SURFACTANT METABOLISM DYSFUNCTION 3 (SMDP3)
| SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
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| | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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Default View:
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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_023498 | Disease | p.ASN568ASP | Pulmonary surfactant metabolism dysfunction 3 (SMDP3) | Swiss-Prot | VAR_025061 | Polymorphism | p.ASN140HIS | N/A | Swiss-Prot | VAR_023500 | Disease | p.GLN1591PRO | Pulmonary surfactant metabolism dysfunction 3 (SMDP3) | Swiss-Prot | VAR_035729 | Polymorphism | p.GLU801ASP | N/A | Swiss-Prot | VAR_035730 | Polymorphism | p.HIS1069GLN | N/A | Swiss-Prot | VAR_035728 | Polymorphism | p.LEU290MET | N/A | Swiss-Prot | VAR_023497 | Disease | p.LEU101PRO | Pulmonary surfactant metabolism dysfunction 3 (SMDP3) | Swiss-Prot | VAR_023499 | Disease | p.LEU1553PRO | Pulmonary surfactant metabolism dysfunction 3 (SMDP3) | Swiss-Prot | VAR_025062 | Polymorphism | p.PRO766SER | N/A | OMIM | 601615.0005 | Disease | p.ASN568ASP | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 | OMIM | 601615.0004 | Disease | p.GLN1591PRO | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 | OMIM | 601615.0002 | Disease | p.LEU101PRO | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 | OMIM | 601615.0003 | Disease | p.LEU1553PRO | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 | OMIM | 601615.0007 | Disease | p.LEU326PRO | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 | OMIM | 601615.0001 | Disease | p.TRP1142TER | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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